Product Details

SNP ID
rs74478604
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:23136437 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCAGGTGCCGGCGGCCGCCTTTTT[G/T]GGCTCCGGGACCCCCGGGAGTGGGA
Phenotype
MIM: 609194
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CABLES1 PubMed Links

Gene Details

Gene
CABLES1
Gene Name
Cdk5 and Abl enzyme substrate 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001100619.2 675 Missense Mutation TTG,TTT L225F NP_001094089.1
NM_001256438.1 675 Intron NP_001243367.1
NM_138375.2 675 Intron NP_612384.1
Gene
LOC105372022
Gene Name
uncharacterized LOC105372022
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_011526281.2 675 Intron XP_011524583.1
XM_011526282.2 675 Intron XP_011524584.1

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